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Article

Preserved speech variant is allelic of classic Rett syndrome.

European journal of human genetics : EJHG - 1 May 2000

De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A

Abstract excerpt

Rett syndrome is a neurological disorder affecting predominantly females with regression loss of speech and purposeful hand use, after a few months of almost normal development. Postnatal microcephaly, hand dispraxia, stereotypic 'hand-washing' activities, ataxia, and abnormal breathing are among its most characteristic features. Another aspect of this disorder is growth failure. The preserved speech variant...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Methyl-CpG-Binding Protein 2

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Source

Identifiers

PMID: 10854091
DOI: 10.1038/sj.ejhg.5200473

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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